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343 Cyclodextrin Overcomes the Sterol Transport Defect in the Liver of the Niemann Pick Type C2 Mouse

✍ Scribed by Liu, Benny; Ramirez, Charina M.; Turley, Stephen D.; Dietschy, John M.

Book ID
122099981
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
82 KB
Volume
138
Category
Article
ISSN
0016-5085

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## Abstract Niemann‐Pick type C1 (NPC1) disease is an autosomal‐recessive cholesterol‐storage disorder characterized by liver dysfunction, hepatosplenomegaly, and progressive neurodegeneration. The NPC1 gene is expressed in every tissue of the body, with liver expressing the highest amounts of NPC1